Paper Title: Newborn screening for Sickle cell disease in Nigeria - Challenges and opportunities

Authors: Anolue MA


Sickle cell disease (SCD) is an inherited autosomal recessive disorder affecting red blood cells with high morbidity and mortality worldwide. Sickle cell anaemia (SCA) is the most common and severe type of sickle cell disease. The United Nations has recognized SCD as a global public health problem and the World Health Organisation (WHO) has previously recommended that member states initiate National sickle cell control guidelines which are comprehensive by 2020. 
While there has been significant improvement in outcomes for children with SCD in high-income countries due to factors such as early diagnosis through prenatal diagnosis, newborn screening programs, prophylactic therapy, hydroxyurea therapy and bone marrow transplant, low and middle-income countries such as Nigeria still have a high disease burden.

In most African countries including Nigeria, neither prenatal nor neonatal screening for sickle cell disease is readily available or affordable. Thus, in the absence of a routine newborn screening program, diagnoses are often made when patients present with suggestive clinical features or based on the request of parents or healthcare providers.
High Performance Liquid Chromatography is the gold standard for diagnosis of SCD in newborns, however inexpensive and easy to use point of care testing devices have also shown high sensitivity and specificity in the detection of haemoglobin genotype and can play a role in coordinated newborn screening for SCD in Nigeria.

Morbidities and mortalities from SCD are preventable if children are started early on interventions like folic acid, administration of oral penicillin, immunizations, prevention and treatment of malaria. However, determining which child will benefit from such care will be challenging if routine screening of newborns for SCD is not instituted.

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